Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS)

Kocoshis, Samuel A.; Goldschmidt, Monique; Nathan, Jaimie D.; El‐Chammas, Khalil; Bondoc, Alexander; Tiao, Gregory M.; Alonso, M. Henar; Ubesie, Agozie C; Cole, Conrad R.; Kaul, Ajay

doi:10.1016/j.jpedsurg.2018.08.051

Cited by 8 publications

(6 citation statements)

References 15 publications

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“…91 Since then, both de novo and inherited ACTG2 variants in adult patients with CIPO have been described. 20,87 Clinical suspicion should arise from the association of CIPO with megacystitis, 92,93 impaired or absent esophageal motility, 20,90 or visceral myopathy on histologic examination. 89,91 However, it should be noted that a significant phenotypic variability has been observed between carriers even within the same family.…”

Section: G Ene Ti C Cip Omentioning

confidence: 99%

“…1,5,11 Low amplitude contractions suggest an enteric myopathy but they may also reflect the presence of gut dilatation, while poorly organized contractions of normal amplitude may suggest an enteric neuropathy. 2,79 Esophageal manometry is an easy-to-perform, available, standardized and usually well tolerated technique that has been found to predict well characterized histological alterations in patients with myopathic 20,90 or neuropathic 67,69 forms of CIPO. Severe esophageal motor abnormalities, such as aperistalsis or achalasia-like alterations, are suggestive of an underlying visceral myopathy or neuropathy, respectively.…”

Section: Manome Trymentioning

confidence: 99%

“…In this context, the identification of the anatomical site of gut (mega‐esophagus, ‐stomach, ‐duodenum, small bowel, ‐colon, ‐rectum) or urinary tract (mega‐ureter, ‐bladder) dilatation, such as megaduodenum in Mungan's syndrome 88 or urinary tract dilatation in enteric smooth muscle actin gamma 2 (ACTG2) gene mutations, 89 may help to identify the phenotype. In addition, the concurrent presence of some alterations of esophageal manometry, such as the ineffective or absent contractility in the esophageal body have been found to be associated with ACTG2 mutations affecting smooth muscle function, 20,90 and direct sequencing is recommended in such cases 20 . Since the number of phenotypes associated with specific genetic mutations is increasing, genetic testing with parallel massive sequencing, either targeting a pool of selected candidate genes or the whole‐exome, is also encouraged when the clinical diagnosis is uncertain.…”

Section: Genetic Cipomentioning

confidence: 99%

“…Esophageal manometry is an easy‐to‐perform, available, standardized and usually well tolerated technique that has been found to predict well characterized histological alterations in patients with myopathic 20,90 or neuropathic 67,69 forms of CIPO. Severe esophageal motor abnormalities, such as aperistalsis or achalasia‐like alterations, are suggestive of an underlying visceral myopathy or neuropathy, respectively.…”

Section: Manometrymentioning

confidence: 99%

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Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Basilisco,

Marchi,

Coletta

2023

Neurogastroenterology Motil

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Chronic intestinal pseudo‐obstruction is a rare and heterogeneous syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine with air/fluid levels in the absence of any mechanical occlusive lesion. Several diseases may be associated with chronic intestinal pseudo‐obstruction and in these cases, the prognosis and treatment are related to the underlying disease. Also, in its “primary or idiopathic” form, two subgroups of patients should be determined as they require a more specific therapeutic approach: patients whose chronic intestinal pseudo‐obstruction is due to sporadic autoimmune/inflammatory mechanisms and patients whose neuromuscular changes are genetically determined. In a context of a widely heterogeneous adult population presenting chronic intestinal pseudo‐obstruction, this review aims to summarize a practical diagnostic workup for identifying definite subgroups of patients who might benefit from more specific treatments, based on the etiology of their underlying condition.

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Section: G Ene Ti C Cip Omentioning

confidence: 99%

Section: Manome Trymentioning

confidence: 99%

Section: Genetic Cipomentioning

confidence: 99%

Section: Manometrymentioning

confidence: 99%

See 2 more Smart Citations

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Basilisco,

Marchi,

Coletta

2023

Neurogastroenterology Motil

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“…In children with megacystis-microcolon-intestinal hypoperistalsis syndrome, the lower esophageal sphincter has a normal resting tone and relaxation but there is absent peristalsis in the esophageal body with or without concomitant esophageal dilatation [42].…”

Section: Impact Of the Distorted Anatomy On Gerdmentioning

confidence: 99%

Gastroesophageal Reflux Disease and Foregut Dysmotility in Children with Intestinal Failure

Rybak

Sethuraman

Nikaki³

et al. 2020

Nutrients

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Gastrointestinal dysmotility is a common problem in a subgroup of children with intestinal failure (IF), including short bowel syndrome (SBS) and pediatric intestinal pseudo-obstruction (PIPO). It contributes significantly to the increased morbidity and decreased quality of life in this patient population. Impaired gastrointestinal (GI) motility in IF arises from either loss of GI function due to the primary disorder (e.g., neuropathic or myopathic disorder in the PIPO syndrome) and/or a critical reduction in gut mass. Abnormalities of the anatomy, enteric hormone secretion and neural supply in IF can result in rapid transit, ineffective antegrade peristalsis, delayed gastric emptying or gastroesophageal reflux. Understanding the underlying pathophysiologic mechanism(s) of the enteric dysmotility in IF helps us to plan an appropriate diagnostic workup and apply individually tailored nutritional and pharmacological management, which might ultimately lead to an overall improvement in the quality of life and increase in enteral tolerance. In this review, we have focused on the pathogenesis of GI dysmotility in children with IF, as well as the management and treatment options.

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Intestinal Pseudo-Obstruction

Saliakellis

Rybak

Borrelli

2021

Textbook of Pediatric Gastroenterology, Hepatology and Nutrition

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Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS)

Cited by 8 publications

References 15 publications

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Gastroesophageal Reflux Disease and Foregut Dysmotility in Children with Intestinal Failure

Intestinal Pseudo-Obstruction

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